ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu) (rs750860886)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000262181 SCV000337611 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing
Invitae RCV000648008 SCV000769818 uncertain significance Dysferlinopathy 2017-11-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 1919 of the DYSF protein (p.Asp1919Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs750860886, ExAC 0.01%). This variant has not been reported in the literature in individuals with DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 284822). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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